is cat eye syndrome dominant or recessive

Autosomal dominant. CES results from a duplication or triplication of a part of chromosome 22.

Disorders with Similar Symptoms

The following conditions can have symptoms that resemble those of CES, but they have different underlying defects. Comparisons may be useful for a differential diagnosis:

A rare pattern of malformations known as “CHARGE syndrome” can impact the body’s organ systems. (C)oloboma of the eye; (H)eart defects; (A)tresia of the Choanae, which is defined as a bony or membranous blockage of the passageway between the nose and throat; (R)etardation of growth and development and/or intellectual deficiency; (G)enital anomalies; and (E)ar anomalies and/or deafness are the acronyms that make up CHARGE. A diagnosis of CHARGE syndrome requires the presence of four or more of these distinctive characteristics. A small head, incomplete closure of the roof of the mouth (cleft palate), an abnormal groove in the upper lip (cleft lip), swallowing difficulties, facial nerve paralysis (facial palsy), an abnormal connection between the windpipe and the tube that carries food from the throat to the stomach (tracheoesophageal fistula), kidney malformations, and/or other features are among the other variable symptoms and findings that some affected individuals may experience. Cases of the CHARGE syndrome can run in families or happen at random (sporadically). A mutation in the CHD7 gene is present in many patients (Lalani et al, 2006).

VACTERL association is a rare pattern of malformations. The abbreviation VACTERL stands for vertebral anomalies, antral atresia, whether or not a fistula is present, cardiac defects, specifically ventricular septal defect, tracheoesophageal fistula, renal abnormalities, and limb anomalies, such as radial dysplasia, which is an abnormal development of the bone on the thumb side of the forearm. The VACTERL association typically seems to happen at random and for no apparent reason (sporadically).

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The existence of additional chromosomal material derived from chromosome 22q11 is the basis for the diagnosis of CES. (see “Causes” above).

Based on the results of specialized tests like ultrasound, amniocentesis, and/or chorionic villus sampling (CVS), a diagnosis of CES may be made prenatally. Fetal ultrasonography uses reflected sound waves to form an image of the growing fetus, which may reveal certain defects like a heart defect that could indicate CES. While tissue samples from a section of the placenta are removed during CVS, amniocentesis involves the removal and analysis of a sample of amniotic fluid containing fetal cells. Studies on these cells’ chromosomes could identify the CES chromosome.

A comprehensive clinical evaluation is necessary to identify a subset of distinctive physical findings, including coloboma, downslanting eyelid folds (palpebral fissures), preauricular tags and/or pits, malformed ears lacking the external ear canal, anal atresia, cardiac defects, and renal malformations, in order to diagnose CES postnatally. Following a suspicion, a standard chromosomal analysis is performed to determine whether the CES chromosome or a duplication in the 22q11 region is present.

Following a chromosomal diagnosis, a number of specialized tests may be carried out to see if any additional CES characteristics exist. Specifically, it might be advisable to conduct a comprehensive cardiac evaluation in order to identify any potential cardiac abnormalities. A comprehensive clinical examination, the use of a stethoscope to assess heart and lung sounds, x-ray studies, electrocardiography (EKG), echocardiography, cardiac catheterization, and/or other cardiac studies may all be part of this evaluation. The electrical activity of the heart muscle is recorded by an EKG, which can show aberrant electrical patterns. Sound waves are directed toward the heart during an echocardiogram, which allows medical professionals to examine the motion and function of the heart. A tiny hollow tube called a catheter is threaded through the blood vessels that supply the heart and placed into a large vein during a cardiac catheterization procedure. This process can be used for a number of things, such as assessing the heart’s capacity to pump blood, determining the heart’s internal blood pressure, and taking blood samples to determine the oxygen content.

A comprehensive eye exam and close monitoring of hearing should be part of the additional testing. Prompt intervention and appropriate, early correction or supportive treatment may be ensured by early recognition of potential visual impairment and/or hearing loss.

In addition, physical abnormalities that may be associated with CES, such as gastrointestinal, genitourinary, renal, skeletal, or biliary defects, may also be detected and/or characterized using specialized imaging techniques and/or other tests. Investigation of cognitive function may also be appropriate.

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Treatment: A team of medical professionals, including pediatricians, surgeons, cardiologists, gastroenterologists, eye specialists, health professionals who detect, assess, and assist in managing hearing impairments, physicians who diagnose and treat disorders of the skeleton, muscles, joints, and related tissues (orthopedists), and/or other health care professionals, may be needed to treat CES.

The management of disease focuses on the unique symptoms that each person experiences. It may be necessary for individuals with congenital heart defects to undergo treatment with specific medications, surgery, or other procedures. In addition, surgical correction is necessary for anal atresia. Surgical repair, correction, or management of specific ocular defects, skeletal abnormalities, genital defects, hernias, Hirschsprung disease, biliary atresia, and/or other malformations associated with the disorder may also be recommended in certain cases. The precise surgical procedures carried out may vary depending on the number, kind, degree, and/or combination of anatomical abnormalities; the symptoms that accompany them; the patient’s age; and other variables.

People may be vulnerable to bacterial infection of the heart lining and valves both before and after surgery for specific cardiac defects (endocarditis). Thus, prophylactic (preventive) antibiotic therapy may be recommended both prior to and following specific surgical procedures as well as dental visits. In addition, respiratory infections must be treated vigorously and early.

Treatment options for people with specific skeletal abnormalities could include physical therapy, different orthopedic procedures, and even surgery. Furthermore, growth hormone therapy may be appropriate for people with severe short stature who also have a growth hormone deficiency.

In order to guarantee that children with CES fulfill their potential, early intervention is crucial. Specialized social support, remedial education, and/or other medical, social, and/or vocational services are examples of special services that could be helpful.

Affected people and their families will benefit from genetic counseling as well. Parents of affected individuals may be advised to undergo chromosomal studies to ascertain whether their children carry the CES chromosome or display mosaicism for this chromosome, especially if their children display any characteristics that could be linked to the disorder. Additionally helpful to adults with CES who want to start a family is genetic counseling.

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Autosomes and Dominant Genes:

Genetically based traits and disorders are known as autosomal dominant. One of the 22 chromosomes known as an autosome contains a dominant gene that serves as the source. These are all the chromosomes except for the sex chromosomes. A dominant gene is one that manifests with just one copy. Recessive genes need two copies to manifest their trait.

FAQ

Can you inherit cat eye syndrome?

This is due to germline mosaicism, where the cells of the body do not carry the genetic change but it is found in egg cells or sperm. If a parent has CES, the chances of passing the syndrome on to a child are much higher at 50%.

How does a person get cat eye syndrome?

Cat eye syndrome is a rare genetic condition caused by the short arm (p) and tiny region of the long arm (q) of chromosome 22 being duplicated three (trisomy) to four (tetrasomy) times instead of twice. The syndrome’s name comes from the eye abnormalities that are commonly linked with it.

What are the odds of getting cat eye syndrome?

It’s caused by a problem with a chromosome, so people are born with it. It gets its name because one of the most common symptoms is that the eyes look similar to a cat’s. This is because there’s a hole in the iris (the colored part of your eye). Only between 1 in 50,000 and 1 in 150,000 people in the world have it.

What kind of mutation is cat eye syndrome?

Cat eye syndrome (CES, Online Mendelian Inheritance in Man (OMIM) no. 115470) is a rare developmental disorder in humans associated with the presence of three or four copies of a segment of chromosome 22q11. 2, usually in the form of a bisatellited, isodicentric supernumerary chromosome (Schinzel et al.